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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:
CA693789290
Gene: PGAM1P5
HGNC
NCBI
Linked Data
dbSNP Id:
rs1349229774
MyVariant Identifiers:
chr12:g.95959695_95959696insA (hg19)
chr12:g.95565919_95565920insA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000012.12:g.95565920dup , CM000674.2:g.95565920dup
GRCh38
NC_000012.11:g.95959696dup , CM000674.1:g.95959696dup
GRCh37
NC_000012.10:g.94483827dup
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000626376.2:n.219+14120dup
Search 100 bp 5'
Search 100 bp 3'