Canonical Allele Identifier: PA915954789
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 662240
ClinVar RCV Id: RCV000819846 RCV002332698 RCV003482319 RCV004549897
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Leu1390Phe
CA8644249
NM_000088.4:c.4168C>T