Canonical Allele Identifier: PA2573060455
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332872
ClinVar RCV Id: RCV001806446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Leu1389Pro
CA400191791
NM_000088.4:c.4166T>C