Canonical Allele Identifier: PA658668566
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 456787
ClinVar RCV Id: RCV000548441
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Leu140Pro
CA400227374
NM_000088.4:c.419T>C
CA658656725
NM_000088.4:c.419_420delinsCC