Allele Registry

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.

Canonical Allele Identifier: PA257892

Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17326

ClinVar RCV Id: RCV000626590 RCV001813997 RCV001596936 RCV000018867

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000079.2:p.Gly593Ser	CA257890 NM_000088.4:c.1777G>A