Canonical Allele Identifier: PA2573060411
Gene: COL1A1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gln358Glu
CA8645399
NM_000088.4:c.1072C>G