Canonical Allele Identifier: PA2573060430
Gene: COL1A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Met264Leu
CA8645553
NM_000088.4:c.790A>T
CA400223764
NM_000088.4:c.790A>C