Canonical Allele Identifier: PA2573060443
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1311435
ClinVar RCV Id: RCV001752418
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Phe642Tyr
CA400213632
NM_000088.4:c.1925T>A