Canonical Allele Identifier: PA2828767021
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Lys4139Asn
CA1715574
NM_001378454.1:c.12417A>T
CA347275023
NM_001378454.1:c.12417A>C