Canonical Allele Identifier: PA2828766372
Gene: ALMS1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001365383.1:p.Gln3614His
CA347285811
NM_001378454.1:c.10842G>C
CA347285813
NM_001378454.1:c.10842G>T