Canonical Allele Identifier: PA2828765675
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys3002Asn
CA1714582
NM_001378454.1:c.9006G>C
CA347272282
NM_001378454.1:c.9006G>T