Canonical Allele Identifier: PA2580103830
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2042730
ClinVar RCV Id: RCV002908148
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Pro342Leu
CA8645426
NM_000088.4:c.1025C>T