Canonical Allele Identifier: PA658668731
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456786
ClinVar RCV Id: RCV000547370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ser1393Phe
CA8644244
NM_000088.4:c.4178C>T