Canonical Allele Identifier: PA2828763547
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Leu1159Phe
CA1713533
NM_001378454.1:c.3477G>T
CA347275737
NM_001378454.1:c.3477G>C