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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:
CA1629703511
Gene: HMGCLL1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1772481995
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.55608516del , CM000668.2:g.55608516del
GRCh38
NC_000006.11:g.55473314del , CM000668.1:g.55473314del
GRCh37
NC_000006.10:g.55581273del
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XM_011514701.1:c.-279-66372del
XP_011513003.1:n.-279-66372del
Search 100 bp 5'
Search 100 bp 3'