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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA916422662
Gene: ACTA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1571892736
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.229431901_229431904del , CM000663.2:g.229431901_229431904del
GRCh38
NC_000001.10:g.229567648_229567651del , CM000663.1:g.229567648_229567651del
GRCh37
NC_000001.9:g.227634271_227634274del
NCBI36
NG_006672.1:g.7194_7197del , LRG_429:g.7194_7197del
Transcript Alleles
HGVS
Amino-acid change
ENST00000366683.4:c.809-1_811del
ENST00000684723.1:c.674-1_676del
ENST00000366683.3:c.480-41_480-38del
ENSP00000355644.3:n.480-41_480-38del
ENST00000366684.7:c.809-1_811del
NM_001100.3:c.809-1_811del , LRG_429t1:c.809-1_811del
NM_001100.4:c.809-1_811del
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