Canonical Allele Identifier: PA915954116
Gene: COL1A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.His48Gln
CA8645823
NM_000088.4:c.144T>A
CA400228593
NM_000088.4:c.144T>G