Canonical Allele Identifier: PA658654497
Gene: COL1A1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.Gly767Ser
CA291543892
NM_000088.4:c.2299G>A
CA658653841
NM_000088.4:c.2298_2299delinsCA