Canonical Allele Identifier: PA2580104342
Gene: COL1A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2412969
ClinVar RCV Id: RCV003109984
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Ser1373Thr
CA400192106
NM_000088.4:c.4118G>C